by Katie E. Boyle, MPH
I don’t know if it is common knowledge that with a family history of cancer, there are specific questions we all should be asking - of our families and doctors - to determine eligibility to access a free genetic test that reveals lifetime risk for breast, ovarian, pancreatic and other cancers.
Did you know that having a cancer diagnosis in your family could indicate an inheritable genetic mutation in your family’s DNA that predisposed your family member(s) to that cancer? Did you know that if that family member has the mutation, it’s possible you have it too and your lifetime risk for those cancers are higher than the average person?
I am a fairly educated person on the topic of health and didn’t put two and two together until something very rare occurred in my family. For background, I have three family members on my mother’s side with cancer diagnoses and two on my father’s. Until this strange thing occurred, I was unknowingly living with a condition that raises my risk significantly for cancer. (When I say “significantly” I mean enough for doctors to recommend to me, a healthy person with no cancer, to remove my ovaries, fallopian tubes, uterus AND have a bilateral, radical mastectomy. Those are two “major” surgeries requiring full sedation. That’s significant.) And yet I hadn’t known to ask the right questions of my doctor!
After my and my family’s experience, I want to tell my story to ensure everyone begins asking the right questions.
Strange Thing: My Uncle’s Breast Cancer Diagnosis
In September 2022, at age 66, my uncle on my mother’s side was diagnosed with breast cancer. Earlier that summer, he had found a lump near one of his nipples. He monitored it, later saw his doctor and had a biopsy. It came back positive for breast cancer. Being a man with breast cancer triggered red flags and his doctor sent him to have the genetic testing for variants in the BRCA1 and BRCA2 genes. My uncle planned his mastectomy and coordinated the genetic test. The test came back positive; he was in fact a carrier of the genetic abnormality in the BRCA2 gene. Thankfully, doctors were able to remove all of the cancer and no chemotherapy was necessary. He was back travelling internationally by November!
What are the BRCA1 and BRCA2 gene mutations?
For the science about the BRCA (pronounced “brack-ah”) gene mutations, please visit one of these great resources. CDC NIH A mutation in either the BRCA1 or 2 genes in our DNA is the genetic condition called hereditary breast and ovarian cancer syndrome (HBOC). As a brief summary, the BRCA1 and 2 genes produce proteins that help the body fight off cancers, mainly breast and ovarian, but also many others. With a mutation, or defect, in either gene, the body doesn’t fight off cancer cells like it should, so a person’s risk for growth of certain cancers is elevated significantly.
BRCA Testing and Who Should Get It
BRCA testing is done as recommended by a doctor and coordinated through a genetic counselor. Knowing your status opens up opportunities such as more frequent screenings and “risk-reducing” medications and surgeries. If you only read up until right here, the main point I want to relay to all women, and men, age 18 or older is this:
If there is a breast, ovarian or pancreatic cancer diagnosis(es) in your family history (ask your family members if you’re not sure) you should ask your primary care doctor or gynecologist whether the BRCA genetic testing is right for you. Your doctor will then ask you the important questions from there to determine your eligibility. These questions will include describing aspects of your family members and their diagnosis(es): their age at diagnosis, their gender and how many in your family have had the diagnosis. It may turn out that your parent will require testing before you become eligible, as in my case.
Zeroing in on My Test
My mother had a 50% chance of having the same result as my uncle, her brother. His positive result made her eligible for the free test and sadly, hers also came back positive. This made my brother and me eligible to find out. Thankfully, my mom had a breast MRI and at age 72, and no cancer was found! She is now on her journey to decide what to do.
At this point, I still had hope in my chances of being negative!
Learning My Results, December 2022
The day I got my positive results, I was getting into my car after a particularly bad job interview. As I buckled my seatbelt, the phone rang. My genetic counselor had the results. I knew it was a bad time, but who wouldn’t answer the phone knowing such heavy results had come back? I learned I was positive. Crying my eyes out, I hung up with her so I could call my husband. I revealed the results of the test (and unleashed about the job interview too). I needed to HATE something/someone. I ranted and raved about the company I interviewed with, and he listened. We saved the “big stuff” for later that night at home.
Despite the lineage of positive tests, I was floored to find out that I had in fact inherited the BRCA2 gene mutation from my mother. Why was I floored? Two reasons: Back in 2007-2009, I had learned while in UConn’s master of public health (MPH) program that this mutation is more commonly found in women in the Ashkenazi Jewish population. I had erroneously checked that particular risk into a box other than my own. Actually, I think I checked that particular risk off the list. The second reason I was floored: back in 2015, I had taken one of those direct-to-consumer “genetic health” saliva tests from a popular company to look for any genetic abnormalities. No abnormalities were found in the breast cancer genes they tested. I was pissed that I had the wrong information for all that time! How that could happen is something I will explore in another post. Stay tuned.
The Repercussions of the Results
I made an appointment with my gynecologist, who I love. I learned with my husband by my side that since I am past my childbearing years, my ovaries and fallopian tubes should be removed. And, since I have had abnormal pap smears in the past (even though secondary testing never found any cancer) a hysterectomy would be prudent too. This would mean immediate menopause. While jarring, I was prepared for this information.
What I wasn’t prepared for was the fact that a radical, bilateral mastectomy is indicated too as the most complete risk-reducing measure. I had not realized that science sees this radical surgery – on a healthy person with no cancer – as the best measure to reduce a BRCA2 positive woman’s risk of breast cancer. That fact stuns me to this day. Surgery, which is usually avoided at all costs, on a healthy person? That means the risks are real, definite, and that’s terrifying. I buried my face in my husband’s shoulder in the hallway and bawled.
Deciding What to Do
Of course, for any surgery, it’s my choice. For my ovaries and tubes, removal makes sense because, at age 43, I’m done with childbearing. The surgery and recovery is also relatively easy. There is also no good way to screen the ovaries; there is no ovary analog for mammograms. This results in ovarian cancer being found at very advanced stages, making it much more deadly. For my breasts, I could opt to have more frequent and more in-depth screenings – MRIs – for the rest of my life, covered by insurance.
If you know the way I operate, I have always had the idea of preventing disease and injury at front of mind since losing my father to a workplace fall. Where a negative outcome is preventable, I will do anything necessary to keep it from happening. I can’t bear the thought of finding a tumor in ten to fifteen years, and requiring surgery and possibly chemo then too.
I wanted to deal with this – and mourn this – once, and that has to be now.
After the appointment with my gynecologist, the next appointment I made was with a gynecologic oncologist. I learned the abdominal and breast surgeries should not be done together in one day. I learned about logistics of the surgery, scars, treatments for menopause, considerations for other risks down the line, along with all the details necessary to move forward. My plan is to do the full hysterectomy with bilateral Salpingo oophorectomy (ovaries and tubes) at the end of April.
Next at bat were surgeons for the mastectomy and the reconstruction, two separate entities that are performed on the same day one after another. I have not yet found this team of Superhumans who will work together in one surgery to remove all the breast tissue and reconstruct new breasts.
For me, deciding to have the surgeries was actually very easy. It was a yes from the moment I learned it would prevent me and my family from dealing with cancer.
What You Can Do
If anyone reading this has a breast, ovarian or pancreatic cancer diagnosis or has a family history, they should be asking their doctor whether the BRCA genetic testing is right for them. It matters for your and your family’s health, now and for generations to come.
It’s important to note that direct-to-consumer genetic tests for which you pay online and send in saliva samples are NOT adequate to understand your risk. The full genetic test through a doctor and genetic counselor is the only way to find out if you have the BRCA1 or BRCA 2 gene mutation. At that point, you will be armed with information about your future health upon which you and your children can greatly benefit – and act.